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- Title
Prader-Willi syndrome.
- Authors
Cassidy, Suzanne B; Driscoll, Daniel J
- Abstract
Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.
- Publication
European journal of human genetics : EJHG, 2009, Vol 17, Issue 1, p3
- ISSN
1476-5438
- Publication type
Journal Article
- DOI
10.1038/ejhg.2008.165